January 2025
1. AHTING S, Popp D, Oppermann H, Strehlow V, et al
   Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.
   Hum Mutat. 2025;2025:6657400.
   

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2. SOEJIMA M, Koda Y
   Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe-Based Melting Curve Analysis.
   Hum Mutat. 2025;2025:3468799.
   

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3. KHAN TN, Liu C, Yap KL, Satti HS, et al
   Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.
   Hum Mutat. 2025;2025:5530710.
   

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4. CAO Q, Zhao A, Long Z, Wang X, et al
   Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting PARN Gene in Dyskeratosis Congenita.
   Hum Mutat. 2025;2025:9290736.
   

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   January 2024
5. LONNING PE, Nikolaienko O, Knappskog S
   Constitutional BRCA1 Epimutations: A Key for Understanding Basal-Like Breast and High-Grade Serous Ovarian Cancer.
   Hum Mutat. 2024;2024:7353984.
   

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6. CLOWES V, Ma X, Maude H, Dennis C, et al
   Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.
   Hum Mutat. 2024;2024:6420246.
   

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